Canonical Allele Identifier: CA2580086592
Gene: KIF5A HGNC NCBI

Linked Data

ClinVar Variation Id: 2106159
ClinVar RCV Id: RCV003015095

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57581860C>T , CM000674.2:g.57581860C>T GRCh38
NC_000012.11:g.57975643C>T , CM000674.1:g.57975643C>T GRCh37
NC_000012.10:g.56261910C>T NCBI36
NG_008155.1:g.36797C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.2910-10C>T MANE Select ENSP00000408979.2:n.2910-10C>T
ENST00000674619.1:c.2931-10C>T ENSP00000502270.1:n.2931-10C>T
ENST00000675737.1:n.314-10C>T
ENST00000675882.1:n.2423C>T
ENST00000675929.1:n.1468-10C>T
ENST00000676457.1:c.2805-10C>T ENSP00000501588.1:n.2805-10C>T
ENST00000286452.5:c.2643-10C>T ENSP00000286452.5:n.2643-10C>T
ENST00000455537.6:c.2910-10C>T ENSP00000408979.2:n.2910-10C>T
ENST00000552227.1:n.183C>T
NM_004984.2:c.2910-10C>T NP_004975.2:n.2910-10C>T
NM_001354705.1:c.2643-10C>T NP_001341634.1:n.2643-10C>T
NM_004984.3:c.2910-10C>T NP_004975.2:n.2910-10C>T
XR_002957324.1:n.3143-10C>T
NM_004984.4:c.2910-10C>T MANE Select NP_004975.2:n.2910-10C>T
NM_001354705.2:c.2643-10C>T NP_001341634.1:n.2643-10C>T